Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations

Manisha Ray; Saurav Sarkar; Mukund Namdev Sable

doi:10.1055/s-0041-1740532

Journal of Pediatric Genetics, Inhaltsverzeichnis

J Pediatr Genet 2022; 11(01): 005-014
DOI: 10.1055/s-0041-1740532

Review Article

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations

Manisha Ray

¹Department of Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India

,

Saurav Sarkar

²Department of Otolaryngology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India

,

Mukund Namdev Sable

¹Department of Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India

› Institutsangaben

Abstract

Congenital nonsyndromic hearing loss (NSHL) has been considered as one of the most prevalent chronic disorder in children. It affects the physical and mental conditions of a large children population worldwide. Because of the genetic heterogeneity, the identification of target gene is very challenging. However, gap junction β-2 (GJB2) is taken as the key gene for hearing loss, as its involvement has been reported frequently in NSHL cases. This study aimed to identify the association of GJB2 mutants in different Indian populations based on published studies in Indian population. This will provide clear genetic fundamental of NSHL in Indian biogeography, which would be helpful in the diagnosis process.

Keywords

nonsyndromic hearing loss - genetics - GJB2 - India - mutation

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